Tracking Cognitive Decline and Understanding Study Dropout in PD-GBA
Objective: Analyze which cognitive functions are affected in PD_GBA+, and which factors are linked to dropout risk. Background: People with Parkinson's disease (PD) who carry…Bassoon (BSN) Gene Mutations: A Missing Link in Gait and Balance Dysfunction Across Parkinsonian Disorders?
Objective: To elucidate the clinical significance of mutations in the Bassoon (BSN) gene in early-onset Parkinson’s disease (PD). Background: PD involves complex motor deficits beyond…Hispanic Recruitment to PD GENEration at Columbia University
Objective: To evaluate the effect of having a Hispanic, Spanish-speaking research coordinator on recruitment of Hispanic and Latinx people with Parkinson's disease to the PD…Genetics of African Americans – Louisiana, Parkinson’s Disease – (GoAAL-PD)
Objective: Study a cohort of African American patients with PD to understand the genetic underpinnings, phenotypes, barriers to care, and engagement preferences unique to this…Smoking and Genetic Interactions in Parkinson’s Disease
Objective: To investigate the interaction between smoking and Asian-specific LRRK2 variants (G2385R and R1628P) in Parkinson’s disease (PD) risk, examining whether smoking modifies the genetic…Clinical and neuro-imaging predictors of falls in PLA2G6-related Parkinsonism: a retrospective study
Objective: This study investigates clinical and neuroimaging predictors of recurrent falls and gait disturbances in PLA2G6-related Parkinsonism. Background: PLA2G6-related Parkinsonism is characterized by dystonia-parkinsonism, cerebellar…Balance assessment and effect of virtual reality in Hereditary Spastic Paraplegia
Objective: This study aims to investigate the balance and benefits of Vestibular Rehabilitation (VR) with virtual reality (VRi) in individuals with HSP Background: The HSP…Imbalance and falls in individuals with Hereditary Spastic Paraplegia
Objective: The aim of this systematic review is to assess imbalance and falls in patients with HSP through a systematic and comprehensive evaluation of the…Peripheral neuropathy in Autosomal Recessive Spinocerebellar Ataxia due to ANO10 mutation – Expanding the phenotypic spectrum
Objective: SCAR10/ Adult-onset autosomal recessive cerebellar ataxia is an exceptionally rare form of ataxia, caused by mutations in the ANO10 gene and the specific genotype–phenotypecorrelation…The identification of two novel intronic variants of the SPG4/SPAST gene with pathogenic effect reveals a novel genotype-phenotype correlation
Objective: To perform clinical and genetic analysis of two large families with autosomal dominant hereditary spastic paraplegia (ADHSP). Background: Hereditary spastic paraplegia (HSP) is a…
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